Literature DB >> 18412123

12q12 deletion: a new patient contributing to genotype-phenotype correlation.

Pinella Failla1, Corrado Romano, Santina Reitano, Daniela Di Benedetto, Lucia Grillo, Marco Fichera, Lucia Castiglia.   

Abstract

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Year:  2008        PMID： 18412123     DOI： 10.1002/ajmg.a.32280

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  4 in total

1.  Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay.

Authors:  Cyril Amouroux; Marie Vincent; Patricia Blanchet; Jacques Puechberty; Anouck Schneider; Anne Marie Chaze; Manon Girard; Magali Tournaire; Christian Jorgensen; Denis Morin; Pierre Sarda; Geneviève Lefort; David Geneviève
Journal:  Eur J Hum Genet       Date:  2012-01-18       Impact factor: 4.246

2.  Deletion at 12q12 increases the risk of developmental delay and intellectual disability.

Authors:  Ying Weng; Xiaoping Luo; Ling Hou
Journal:  Ann Hum Genet       Date:  2018-08-29       Impact factor: 1.670

3.  Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications.

Authors:  Lynnea Myers; Moira Blyth; Kamran Moradkhani; Dubravka Hranilović; Sam Polesie; Johan Isaksson; Ann Nordgren; Maja Bucan; Marie Vincent; Sven Bölte; Britt-Marie Anderlid; Kristiina Tammimies
Journal:  Mol Genet Genomic Med       Date:  2019-11-15       Impact factor: 2.183

4.  Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31.

Authors:  Jonathan D J Labonne; Terri M Driessen; Marvin E Harris; Il-Keun Kong; Soumia Brakta; John Theisen; Modibo Sangare; Lawrence C Layman; Cheol-Hee Kim; Janghoo Lim; Hyung-Goo Kim
Journal:  J Clin Med       Date:  2020-01-19       Impact factor: 4.241
  4 in total

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